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calvarial doughnut lesions with bone fragility

Summary
Definition
An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0080721
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
166929 SGMS2 sphingomyelin synthase 2
The Human Phenotype Ontology
Displaying entries 11 - 13 of 13 in total
HPO ID HPO Term
HP:0003510 Severe short stature
HP:0000938 Osteopenia
HP:0002684 Thickened calvaria
Displaying 1 entry
Gene ID Gene Symbol Description
166929 SGMS2 sphingomyelin synthase 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025